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Journal of Clinical Immunology

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Open Access 01-05-2021 | Letter to Editor

Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings

Authors: Li Guo, Jun Wang, Xinghui Yang, Rongjun Zheng, Natalie Deuitch, Panfeng Tao, Qing Zhou

Published in: Journal of Clinical Immunology | Issue 4/2021

Excerpt

To the Editor, …

Clarke K, Campbell C, Omoyinmi E, Hong Y, Al Obaidi M, Sebire N, et al. Testicular ischemia in deficiency of adenosine deaminase 2 (DADA2). Pediatr Rheumatol. 2019;17(1):39. https://doi.org/10.1186/s12969-019-0334-5.CrossRef

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911–20. https://doi.org/10.1056/NEJMoa1307361.CrossRefPubMedPubMedCentral

Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370(10):921–31. https://doi.org/10.1056/NEJMoa1307362.CrossRefPubMed

Aksentijevich I, Sampaio Moura N, Barron K. Adenosine Deaminase 2 Deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle. Copyright © 1993–2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993.

Lee PY. Vasculopathy, immunodeficiency, and bone marrow failure: the intriguing syndrome caused by deficiency of adenosine deaminase 2. Front Pediatr. 2018;6(282). https://doi.org/10.3389/fped.2018.00282.

Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38(5):569–78. https://doi.org/10.1007/s10875-018-0525-8.CrossRefPubMedPubMedCentral

Lee PY, Kellner ES, Huang Y, Furutani E, Huang Z, Bainter W, et al. Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2). J Allergy Clin Immunol. 2020;145(6):1664–72.e10. https://doi.org/10.1016/j.jaci.2019.12.908.CrossRefPubMed

Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, et al. Treatment strategies for deficiency of adenosine deaminase 2. N Engl J Med. 2019;380(16):1582–4. https://doi.org/10.1056/NEJMc1801927.CrossRefPubMedPubMedCentral

Lee PY, Huang Y, Zhou Q, Schnappauf O, Hershfield MS, Li Y, et al. Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. J Allergy Clin Immunol. 2018;142(4):1363–5.e8. https://doi.org/10.1016/j.jaci.2018.05.038.CrossRefPubMedPubMedCentral

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Van Montfrans JM, Hartman EAR, Braun KPJ, Hennekam EAM, Hak EA, Nederkoorn PJ, et al. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Rheumatology. 2016;55(5):902–10. https://doi.org/10.1093/rheumatology/kev439.CrossRefPubMed

Title: Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings
Authors: Li Guo
Jun Wang
Xinghui Yang
Rongjun Zheng
Natalie Deuitch
Panfeng Tao
Qing Zhou
Publication date: 01-05-2021
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 4/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-021-00981-0

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